Canonical Allele Identifier: CA7568268

Gene: MYO5A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.52346425C>T , CM000677.2:g.52346425C>T	GRCh38
NC_000015.9:g.52638622C>T , CM000677.1:g.52638622C>T	GRCh37
NC_000015.8:g.50425914C>T	NCBI36
NG_009887.1:g.187626G>A , LRG_86:g.187626G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356338.11:c.3895G>A	ENSP00000348693.7:p.Val1299Ile
ENST00000399228.6:c.328G>A	ENSP00000382174.2:p.Val110Ile
ENST00000399229.7:c.577G>A	ENSP00000382175.3:p.Val193Ile
ENST00000399231.8:c.3895G>A	ENSP00000382177.3:p.Val1299Ile
ENST00000553916.6:c.3778G>A	ENSP00000451109.2:p.Val1260Ile
ENST00000556196.6:c.*3579G>A	ENSP00000451178.1:n.*3579G>A
ENST00000685194.1:c.1531G>A	ENSP00000509314.1:p.Val511Ile
ENST00000686171.1:c.37G>A	ENSP00000509118.1:p.Val13Ile
ENST00000686989.1:n.4105G>A
ENST00000687172.1:n.2057G>A
ENST00000687574.1:c.3895G>A	ENSP00000510312.1:p.Val1299Ile
ENST00000688074.1:c.1522G>A	ENSP00000509404.1:p.Val508Ile
ENST00000688792.1:n.2038G>A
ENST00000688798.1:c.37G>A	ENSP00000509340.1:p.Val13Ile
ENST00000689601.1:n.2919G>A
ENST00000692556.1:c.3886G>A	ENSP00000510378.1:p.Val1296Ile
ENST00000692646.1:c.1522G>A	ENSP00000510243.1:p.Val508Ile
ENST00000399233.7:c.3895G>A MANE Select	ENSP00000382179.4:p.Val1299Ile
ENST00000356338.10:c.3895G>A	ENSP00000348693.6:p.Val1299Ile
ENST00000358212.10:c.3895G>A	ENSP00000350945.7:p.Val1299Ile
ENST00000399228.5:c.265G>A	ENSP00000382174.1:p.Val89Ile
ENST00000399229.6:c.166G>A	ENSP00000382175.2:p.Val56Ile
ENST00000399231.7:c.3895G>A	ENSP00000382177.3:p.Val1299Ile
ENST00000399233.6:c.3895G>A	ENSP00000382179.3:p.Val1299Ile
ENST00000553916.5:c.3895G>A	ENSP00000451109.1:p.Val1299Ile
ENST00000568914.1:c.274G>A	ENSP00000458016.1:p.Val92Ile
ENST00000613858.4:c.3895G>A	ENSP00000481420.1:p.Val1299Ile
NM_000259.3:c.3895G>A , LRG_86t1:c.3895G>A	NP_000250.3:p.Val1299Ile
NM_001142495.1:c.3895G>A	NP_001135967.1:p.Val1299Ile
XM_005254397.2:c.3895G>A	XP_005254454.1:p.Val1299Ile
XM_005254398.3:c.3895G>A	XP_005254455.1:p.Val1299Ile
XM_011521606.1:c.3901G>A	XP_011519908.1:p.Val1301Ile
XM_011521607.1:c.3892G>A	XP_011519909.1:p.Val1298Ile
XM_011521608.1:c.3901G>A	XP_011519910.1:p.Val1301Ile
XM_011521609.1:c.3901G>A	XP_011519911.1:p.Val1301Ile
XM_011521610.1:c.3892G>A	XP_011519912.1:p.Val1298Ile
XM_011521611.1:c.3901G>A	XP_011519913.1:p.Val1301Ile
XM_011521612.1:c.3892G>A	XP_011519914.1:p.Val1298Ile
XM_005254397.4:c.3895G>A	XP_005254454.1:p.Val1299Ile
XM_011521606.2:c.3967G>A	XP_011519908.2:p.Val1323Ile
XM_011521607.3:c.3958G>A	XP_011519909.2:p.Val1320Ile
XM_011521608.3:c.3967G>A	XP_011519910.2:p.Val1323Ile
XM_011521609.3:c.3967G>A	XP_011519911.2:p.Val1323Ile
XM_011521610.3:c.3958G>A	XP_011519912.2:p.Val1320Ile
XM_011521611.3:c.3967G>A	XP_011519913.2:p.Val1323Ile
XM_011521612.3:c.3958G>A	XP_011519914.2:p.Val1320Ile
XM_017022227.2:c.3859G>A	XP_016877716.1:p.Val1287Ile
NM_001142495.2:c.3895G>A	NP_001135967.2:p.Val1299Ile
NM_001382347.1:c.3895G>A MANE Select	NP_001369276.1:p.Val1299Ile
NM_001382348.1:c.3967G>A	NP_001369277.1:p.Val1323Ile
NM_001382349.1:c.3967G>A	NP_001369278.1:p.Val1323Ile